E-LIB Suche - Ergebnisse für: Burkitt‐Wright, Emma

1

The 8th International RASopathies Symposium: Expanding rese..:

Pierpont, Elizabeth I. ; Bennett, Anton M. ; Schoyer, Lisa...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

Link: https://doi.org/10.1002/..

2

The sixth international RASopathies symposium: Precision me..:

Gripp, Karen W. ; Schill, Lisa ; Schoyer, Lisa...
American Journal of Medical Genetics Part A. 182 (2019) 3 - p. 597-606 , 2019

Link: https://doi.org/10.1002/..

3

Delineation of dominant and recessive forms of LZTR1‐associ..:

Pagnamenta, Alistair T. ; Kaisaki, Pamela J. ; Bennett, Fenella...
Clinical Genetics. 95 (2019) 6 - p. 693-703 , 2019

Link: https://doi.org/10.1111/..

4

A heterozygous microdeletion of 20p12.2–3 encompassing PROK..:

Parsons, Samuel J. H. ; Wright, Neville B. ; Burkitt‐Wright, Emma..
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2261-2267 , 2017

Link: https://doi.org/10.1002/..

5

Autism spectrum disorder and other neurobehavioural comorbi..:

Garg, Shruti ; Brooks, Ami ; Burns, Amy...
Developmental Medicine & Child Neurology. 59 (2017) 5 - p. 544-549 , 2017

Link: https://doi.org/10.1111/..

6

The Fourth International Symposium on Genetic Disorders of ..:

Stevenson, David A. ; Schill, Lisa ; Schoyer, Lisa...
American Journal of Medical Genetics Part A. 170 (2016) 8 - p. 1959-1966 , 2016

Link: https://doi.org/10.1002/..

7

Recent developments in neurofibromatoses and RASopathies: M..:

Rauen, Katherine A. ; Huson, Susan M. ; Burkitt‐Wright, Emma...
American Journal of Medical Genetics Part A. 167 (2014) 1 - p. 1-10 , 2014

Link: https://doi.org/10.1002/..

8

The diagnostic utility of clinical exome sequencing in 60 p..:

Molina‐Ramírez, Leslie P. ; Burkitt‐Wright, Emma MM. ; Saeed, Haroon...
Clinical Otolaryngology. 46 (2021) 6 - p. 1257-1262 , 2021

Link: https://doi.org/10.1111/..

9

A metabolic signature for NADSYN1-dependent congenital NAD ..:

Szot, Justin O. ; Cuny, Hartmut ; Martin, Ella M.M.A....
Journal of Clinical Investigation. 134 (2024) 4 - p. , 2024

Link: https://doi.org/10.1172/..

10

Personalized recurrence risk assessment following the birth..:

Bernkopf, Marie ; Abdullah, Ummi B. ; Bush, Stephen J....
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

11

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

Link: https://doi.org/10.1016/..

12

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correl..:

Majander, Anna ; Jurkute, Neringa ; Burté, Florence...
American Journal of Ophthalmology. 241 (2022) - p. 9-27 , 2022

Link: https://doi.org/10.1016/..

13

Infant excitation/inhibition balance interacts with executi..:

Carter Leno, Virginia ; Begum-Ali, Jannath ; Goodwin, Amy...
Molecular Autism. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

14

Management of cardiac aspects in children with Noonan syndr..:

Wolf, Cordula M. ; Zenker, Martin ; Burkitt-Wright, Emma...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104372 , 2022

Link: https://doi.org/10.1016/..

15

European Medical Education Initiative on Noonan syndrome: A..:

García-Miñaúr, Sixto ; Burkitt-Wright, Emma ; Verloes, Alain...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104371 , 2022

Link: https://doi.org/10.1016/..